ACADM Chromosome 1
Acyl-CoA dehydrogenase medium chain
Upload your DNA to see your personal genotypes for variants in ACADM.
What This Gene Does
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Flavoproteins"
Locus Type
gene with protein product
Location
1p31.1
Ensembl
ENSG00000117054
Associated Conditions (13)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Inborn genetic diseases
ACADM-related disorder
See cases
Ovarian serous cystadenocarcinoma
Lung cancer
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
Glioma susceptibility 1
Epileptic spasm
Deficiency of butyryl-CoA dehydrogenase
Hydrocephalus
nonsyndromic
autosomal recessive 2
Key Variants
RS1022879056
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1057516564
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
Health Risk
RS1057520215
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1212443202
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1293309607
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1331587978
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1337929727
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1348176225
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS138098371
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS139457557
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1462472677
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS147559466
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, See cases, ACADM-related disorder
Health Risk
All Variants (326)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1022879056 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057516564 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases |
| RS1057520215 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1212443202 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1293309607 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1331587978 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1337929727 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1348176225 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS138098371 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS139457557 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1462472677 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS147559466 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, See cases, ACADM-related disorder |
| RS149308824 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS149678400 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1553123872 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1553127382 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1557466834 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1647481193 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS17848070 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS200754053 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2100417374 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS368875210 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS370608001 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS372525651 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS373057729 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS373852490 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS375921211 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS398123071 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS528788578 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS746136472 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS746483754 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS747268471 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS753627680 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS753928772 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS754359356 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS754938068 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS759254037 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS760892123 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, See cases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS762984318 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS764268346 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS764942250 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS765170454 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS766532148 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS768452911 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS771550655 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS776312173 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS778535261 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS778891510 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS780510026 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS781424858 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |